Ellie's Story – by Mum, Beth

When Ellie was born, she was a bright baby, but she was a screaming baby.

She just screamed all day and then slept for about 13 hours and didn’t wake up once. That was the case for the first three or four months.

She was our firstborn, and she seemed to be hitting all her milestones at that stage, so it was difficult, but we thought everything was normal.

Then at about nine months, Ellie just seemed to slow right down.

She wasn’t crawling around as much, and she wasn’t pulling herself up like other babies her age. That was when we first started to think something might be wrong.

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We were referred to a neurological team for tests. When the results came back, I couldn’t make the appointment – I was already pregnant with Ellie’s sister Florence by then and was feeling quite sick. But they told my husband Norberto they needed to see us both at the same time.

I said to him, ‘That’s not a good sign.’ I didn’t quite believe that it would be anything as terrible as a rare genetic disease.

A shocking diagnosis

They told us that Ellie has Spinal Muscular Atrophy (SMA). It is essentially a muscle wasting condition. Her body doesn’t get the protein it needs to keep the neurons healthy, and her muscles atrophy, which basically means they die. At that time, we didn’t even know she had SMA Type II, which is less severe and has a longer life expectancy. They said she had maybe two years to live, but with Type II they said her life expectancy could be more like mid-twenties.

The whole experience was hideous, and I really thought I might die from the shock of it all. They said, ‘Whatever you do, don’t Google it.’ But of course, that’s the first thing you do – and the search results were very frightening; we were seeing wonderful human beings just wasting away.

When I told the doctors I was pregnant with Florence, they said there was a 25 per cent chance that she would have the condition too because Norberto and I were both carriers. That made it even more harrowing; it was almost too much to bear.

The shock period was absolutely awful, and it was also blended with a slight sense of denial.

I was searching for a cure anywhere I could. We were just desperate – we were like frightened children.

We went from being a so-called normal average family to potentially having both of our children with this massively limiting degenerative condition.

Fortunately, Florence doesn’t have the disease. She is a carrier like us, but she is healthy. And we can see now what a blessing it is that I became pregnant with Florence before we even knew that we were carriers. Ellie and Florence have such a special bond as sisters; they’re best friends.

A little girl’s hope

Ellie is very articulate, sensitive and gentle. She adores horse riding and acting and creative writing – she loves storytelling.

Ellie knows her condition is life-limiting and she does know that it’s quality-of-life-limiting too.

I have stacks of hope but my recent journey with Ellie is that I don’t want to give her false hope. She’s asked me, ‘Mummy will I ever walk?’ and I’ve always said, ‘Oh poppet, no you won’t.’

But increasingly she’s telling me she wants hope - unimaginably, crazy hope. She dreams that she’s not in a wheelchair. She dreams that she can run. It’s so hard, you can imagine.

Worsening over time

With SMA, muscle wastage starts close to the spine and continues to work its way out and gets worse over time. So, Ellie can use her lower legs and she's still able to write and play an instrument because her fingers still have some muscles. But her upper muscles – her thighs and upper arms – are more atrophied. It’s very dangerous for the lungs because they’re close to the spine and they start to atrophy first too.

In future, she’ll need spinal rodding to secure her spine because she has scoliosis and it’s changing so much. She will need hip reconstruction as well. We try to do physio and back braces and other things to be helpful, but Ellie hates them all. When she was younger, we’d do points system with rewards, but she’s past all of that now.

The disease affects her swallowing and breathing, so she does really need a back brace and to do her phsyio. But I’m worried to push her because I know it depresses her.

Day-to-day isolation

The thing we’ve struggled with the most since we’ve come through the shock phase is just the sense of isolation that hasn’t left either of us. It’s so isolating wanting to do something even as simple as taking Ellie to the playground.

The first time we put Ellie down the slide, for example. It was a beautiful summer’s day, and all the kids were playing, and she went down so very gently and just near the bottom she caught her right ankle, and it broke.

The thing that haunts us the most is just wanting to enjoy both of our girls' youths, and it’s so very hard to do anything.

The older I get the easier it gets. There was a time when I wouldn’t have been able to talk about it because it was all just too much. We do still have our ups and downs, but I’ve gotten more used to things as time has gone on.

Unexpected childhood milestones

I have changed my perspective on parenting and aspirations for my child and re-framed them around happiness and fulfilment.

It’s funny but I think milestones for us now are the things we want to avoid. They’re things that we're fearful of that haven’t happened yet with Ellie.

I remember the doctors telling us that Ellie was quite strong for her condition and that if she could stay that strong without having a lung infection until the age of six, then the doctor would breathe a sigh of relief. And so, for me, six was a mega milestone.

She’s 11 now and she’s never had a chest infection. She’s never needed to be oxygenated at night. Over time, that will happen, but it hasn’t yet. And we feel very lucky that she seems to be quite strong with the muscles around her lungs because chest infections can be life threatening with SMA. And I just have to say a prayer that long may it be so.

A mental battle

While she does physically struggle, on a day-to-day, it’s Ellie’s confidence and sense of identity that’s damaged the most. She still very much cries because she can’t go on a climbing frame and do things like other children. Her mental health is massively affected.

Our first experience of Julia’s House was when Ellie took to her bed in 2023. She was saying she didn’t want to live, she dropped out of school and she stopped eating. It was an incredibly scary time for us and for her.

But that was luckily the year that we discovered Julia’s House, and things changed massively.

I heard that Julia’s House offered respite, and I applied and we got accepted. Nurse Lisa and Nurse Elaine came over and we sat in the garden. Ellie was in bed when they came, and I often think about how I was – I was such a mess. I was shaking.

Elaine said they could come and offer us some home sits to give us some respite, and Lisa the play worker could come out too. Very quickly, within a week or so, they were over. And it was honestly the only time Ellie would smile.

It felt like our whole house was on fire and Julia’s House came and extinguished the flames. I could cry on Elaine’s shoulder, and she was there to reassure me, and all the Julia’s House nurses and Play Worker and counsellor were helping Ellie through her very fragile mental health condition.

They just came in and gave us a chance to heal a bit. Cope a bit. Relax a bit. We were given this 360 care and love from people that were so gentle with us when we were so damaged, you know. They looked after Ellie and we’d see her smile. The Sibling Worker looked after Florence and we’d see her smile. It was just wonderful really.

It’s a very raw life, having a child like Ellie. Being part of Julia's House is like belonging to a family where you don’t need to explain how tough things are. Everyone knows and everyone is trying to help you in that circle.

Precious support for everyone

We’ve got a home respite sit today with Julia’s House and I can’t wait. Usually, Norberto and I would go out for a meal, or we’ll take Flo with us. We don’t have other respite and family can’t support us – my dad is blind, my mum lives two hours away and Norberto’s family are in Portugal – so it’s hard to get any respite except when the Julia’s House nurses and carers visit.

And an overnight hospice session at the Julia’s House hospice is like all of Ellie’s Christmases come at once! She really appreciates how kind and considerate and gentle everyone is with her.

Being around other children who are in wheelchairs or know what it’s like to have a complex condition has been phenomenal for Ellie. She has developed some really special friendships because of Julia’s House.

Ellie’s become really good friends with another girl called Carmela, and she will often come over to our house to play now, which is amazing.

And for me, being around other mums has been so great. There are lots of mums like me who are keeping on going and staying positive and they’re very inspiring for me.

Support for Florence

Julia’s House also has an incredible Sibling Support Worker for Flo. We had this hideous year where Ellie was so poorly and we tried our best with Flo, but she was just feeling really neglected. And then we had Theresa come into our life, and Flo was so pleased to have her own special person to help her.

Theresa is so amazing – Flo will tell her anything and she just adores her. It’s a big thing in our diary when she comes, and when Ellie and Flo occasionally have their sessions at the same time, it means Norberto and I can go out and enjoy time together.

Compassionate care in the last days

At Julia's House, there is an end-of-life suite at the hospice. And we've talked to Elaine about what we would want to do, and how we would like to be supported, were Ellie's condition to suddenly deteriorate or if she were to get an infection.

I know just from the time that Ellie's been at home in bed poorly that I wouldn't want to nurse Ellie at home in that situation. Because I just feel very vulnerable and frightened that I need to be good medically. And that takes all my attention away from being a mum.

And I can imagine at that time, all I would want to do is just be a mum, and Norberto would just want to be a dad, and Flo would just want to be a sister, and we wouldn't want to worry about anything else.

And I think that's what Julia's House would offer us, if anything like that were to happen – that we would have a safe place to go, that we could concentrate on being a loving family and not on the medical elements, or any of the other things that you would have to worry about.

And I just can't imagine going through that without Julia's House. There is just no way we could cope with that alone. It's just too terrifying and it's too devastating. You just want to be around an extended professional family that show you love and compassion. That's all you want, and that's what Julia's House do.

What if Julia’s House didn’t exist?

If there aren't charities like Julia’s House supporting families like us, with children with life-limiting or life-threatening conditions, that for me would be a very bleak future. It's just imperative that we have this support system for families and for children like Ellie and Florence. It’s the gift of hope, isn’t it? That's what it is.

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